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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:STAT6-PTPRQ

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: STAT6-PTPRQ
FusionPDB ID: 87287
FusionGDB2.0 ID: 87287
HgeneTgene
Gene symbol

STAT6

PTPRQ

Gene ID

6778

374462

Gene namesignal transducer and activator of transcription 6protein tyrosine phosphatase receptor type Q
SynonymsD12S1644|IL-4-STAT|STAT6B|STAT6CDFNA73|DFNB84|DFNB84A|PTPGMC1|R-PTP-Q
Cytomap

12q13.3

12q21.31

Type of geneprotein-codingprotein-coding
Descriptionsignal transducer and activator of transcription 6STAT, interleukin4-inducedsignal transducer and activator of transcription 6, interleukin-4 inducedtranscription factor IL-4 STATphosphatidylinositol phosphatase PTPRQphosphotidylinositol phosphatase PTPRQprotein-tyrosine phosphatase, receptor-type, expressed by glomerular mesangial cells
Modification date2020032920200313
UniProtAcc

P42226

.
Ensembl transtripts involved in fusion geneENST idsENST00000300134, ENST00000454075, 
ENST00000537215, ENST00000538913, 
ENST00000543873, ENST00000556155, 
ENST00000547485, ENST00000266688, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score7 X 12 X 3=2527 X 6 X 3=126
# samples 116
** MAII scorelog2(11/252*10)=-1.19592020997526
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/126*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: STAT6 [Title/Abstract] AND PTPRQ [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)STAT6(57498247)-PTPRQ(81007371), # samples:1
Anticipated loss of major functional domain due to fusion event.STAT6-PTPRQ seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
STAT6-PTPRQ seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
STAT6-PTPRQ seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
STAT6-PTPRQ seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
STAT6-PTPRQ seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
STAT6-PTPRQ seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
STAT6-PTPRQ seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
STAT6-PTPRQ seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneSTAT6

GO:0045944

positive regulation of transcription by RNA polymerase II

8810328

TgenePTPRQ

GO:0045598

regulation of fat cell differentiation

19351528


check buttonFusion gene breakpoints across STAT6 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across PTPRQ (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4SARCTCGA-DX-AB2G-01ASTAT6chr12

57498247

-PTPRQchr12

81007371

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000454075STAT6chr1257498247-ENST00000266688PTPRQchr1281007371+3480149815213479652

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000454075ENST00000266688STAT6chr1257498247-PTPRQchr1281007371+0.0014129440.99858713

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>87287_87287_1_STAT6-PTPRQ_STAT6_chr12_57498247_ENST00000454075_PTPRQ_chr12_81007371_ENST00000266688_length(amino acids)=652AA_BP=
MTFQKIPDEVTKFQLTFLPPSQPNGNIQVYQALVYREDDPTAVQIHNLSIIQKTNTFVIAMLEGLKGGHTYNISVYAVNSAGAGPKVPMR
ITMDIKAPARPKTKPTPIYDATGKLLVTSTTITIRMPICYYSDDHGPIKNVQVLVTETGAQHDGNVTKWYDAYFNKARPYFTNEGFPNPP
CTEGKTKFSGNEEIYIIGADNACMIPGNEDKICNGPLKPKKQYLFKFRATNIMGQFTDSDYSDPVKTLGEGLSERTVEIILSVTLCILSI
ILLGTAIFAFARIRQKQKEGGTYSPQDAEIIDTKLKLDQLITVADLELKDERLTRLLSYRKSIKPISKKSFLQHVEELCTNNNLKFQEEF
SELPKFLQDLSSTDADLPWNRAKNRFPNIKPYNNNRVKLIADASVPGSDYINASYISGYLCPNEFIATQGPLPGTVGDFWRMVWETRAKT
LVMLTQCFEKGRIRCHQYWPEDNKPVTVFGDIVITKLMEDVQIDWTIRDLKIERHGDCMTVRQCNFTAWPEHGVPENSAPLIHFVKLVRA
SRAHDTTPMIVHCSAGVGRTGVFIALDHLTQHINDHDFVDIYGLVAELRSERMCMVQNLAQYIFLHQCILDLLSNKGSNQPICFVNYSAL

--------------------------------------------------------------

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:57498247/chr12:81007371)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
STAT6

P42226

.
FUNCTION: Carries out a dual function: signal transduction and activation of transcription. Involved in IL4/interleukin-4- and IL3/interleukin-3-mediated signaling. {ECO:0000269|PubMed:17210636}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgenePTPRQchr12:57498247chr12:81007371ENST0000026668832501686_17871635.33333333333332296.0DomainFibronectin type-III 18
TgenePTPRQchr12:57498247chr12:81007371ENST0000026668832502036_22921635.33333333333332296.0DomainTyrosine-protein phosphatase
TgenePTPRQchr12:57498247chr12:81007371ENST0000026668832501969_23321635.33333333333332296.0Topological domainCytoplasmic
TgenePTPRQchr12:57498247chr12:81007371ENST0000026668832501948_19681635.33333333333332296.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSTAT6chr12:57498247chr12:81007371ENST00000300134-1122517_632404.0848.0DomainSH2
HgeneSTAT6chr12:57498247chr12:81007371ENST00000454075-1122517_632404.0848.0DomainSH2
HgeneSTAT6chr12:57498247chr12:81007371ENST00000537215-1021517_632294.0738.0DomainSH2
HgeneSTAT6chr12:57498247chr12:81007371ENST00000538913-920517_632294.0738.0DomainSH2
HgeneSTAT6chr12:57498247chr12:81007371ENST00000543873-1122517_632404.0848.0DomainSH2
HgeneSTAT6chr12:57498247chr12:81007371ENST00000556155-1122517_632404.0848.0DomainSH2
HgeneSTAT6chr12:57498247chr12:81007371ENST00000300134-1122802_806404.0848.0MotifNote=LXXLL motif
HgeneSTAT6chr12:57498247chr12:81007371ENST00000454075-1122802_806404.0848.0MotifNote=LXXLL motif
HgeneSTAT6chr12:57498247chr12:81007371ENST00000537215-1021802_806294.0738.0MotifNote=LXXLL motif
HgeneSTAT6chr12:57498247chr12:81007371ENST00000538913-920802_806294.0738.0MotifNote=LXXLL motif
HgeneSTAT6chr12:57498247chr12:81007371ENST00000543873-1122802_806404.0848.0MotifNote=LXXLL motif
HgeneSTAT6chr12:57498247chr12:81007371ENST00000556155-1122802_806404.0848.0MotifNote=LXXLL motif
TgenePTPRQchr12:57498247chr12:81007371ENST000002666883250100_1951635.33333333333332296.0DomainFibronectin type-III 2
TgenePTPRQchr12:57498247chr12:81007371ENST0000026668832501098_11901635.33333333333332296.0DomainFibronectin type-III 12
TgenePTPRQchr12:57498247chr12:81007371ENST0000026668832501192_12821635.33333333333332296.0DomainFibronectin type-III 13
TgenePTPRQchr12:57498247chr12:81007371ENST0000026668832501287_13801635.33333333333332296.0DomainFibronectin type-III 14
TgenePTPRQchr12:57498247chr12:81007371ENST0000026668832501384_14701635.33333333333332296.0DomainFibronectin type-III 15
TgenePTPRQchr12:57498247chr12:81007371ENST0000026668832501474_15781635.33333333333332296.0DomainFibronectin type-III 16
TgenePTPRQchr12:57498247chr12:81007371ENST0000026668832501583_16811635.33333333333332296.0DomainFibronectin type-III 17
TgenePTPRQchr12:57498247chr12:81007371ENST000002666883250199_2941635.33333333333332296.0DomainFibronectin type-III 3
TgenePTPRQchr12:57498247chr12:81007371ENST000002666883250350_4381635.33333333333332296.0DomainFibronectin type-III 4
TgenePTPRQchr12:57498247chr12:81007371ENST00000266688325036_991635.33333333333332296.0DomainFibronectin type-III 1
TgenePTPRQchr12:57498247chr12:81007371ENST000002666883250441_5391635.33333333333332296.0DomainFibronectin type-III 5
TgenePTPRQchr12:57498247chr12:81007371ENST000002666883250514_6061635.33333333333332296.0DomainFibronectin type-III 6
TgenePTPRQchr12:57498247chr12:81007371ENST000002666883250610_7051635.33333333333332296.0DomainFibronectin type-III 7
TgenePTPRQchr12:57498247chr12:81007371ENST000002666883250710_7991635.33333333333332296.0DomainFibronectin type-III 8
TgenePTPRQchr12:57498247chr12:81007371ENST000002666883250804_8941635.33333333333332296.0DomainFibronectin type-III 9
TgenePTPRQchr12:57498247chr12:81007371ENST000002666883250899_9881635.33333333333332296.0DomainFibronectin type-III 10
TgenePTPRQchr12:57498247chr12:81007371ENST000002666883250993_10931635.33333333333332296.0DomainFibronectin type-III 11
TgenePTPRQchr12:57498247chr12:81007371ENST00000266688325036_19471635.33333333333332296.0Topological domainExtracellular


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Fusion Protein-Protein Interaction


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
STAT6
PTPRQ


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to STAT6-PTPRQ


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to STAT6-PTPRQ


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSTAT6C0018922hemangiopericytoma2ORPHANET
HgeneSTAT6C1266119Solitary fibrous tumor2CTD_human;ORPHANET
HgeneSTAT6C0011615Dermatitis, Atopic1CTD_human
HgeneSTAT6C0013604Edema1CTD_human
HgeneSTAT6C0018671Head and Neck Neoplasms1CTD_human
HgeneSTAT6C0018675Head Neoplasms1CTD_human
HgeneSTAT6C0027533Neck Neoplasms1CTD_human
HgeneSTAT6C0034069Pulmonary Fibrosis1CTD_human
HgeneSTAT6C0086196Eczema, Infantile1CTD_human
HgeneSTAT6C0151603Anasarca1CTD_human
HgeneSTAT6C0278996Malignant Head and Neck Neoplasm1CTD_human
HgeneSTAT6C0746787Cancer of Neck1CTD_human
HgeneSTAT6C0751177Cancer of Head1CTD_human
HgeneSTAT6C0887900Upper Aerodigestive Tract Neoplasms1CTD_human
HgeneSTAT6C4721507Alveolitis, Fibrosing1CTD_human